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JCI Insight|May 9, 2023
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse modelAndrea Del Bondio, Fabiana Longo, Daniele De Ritis, et al.
Neurology|October 15, 2021
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and PathogenesisFabiana Longo, Daniele De Ritis, Annarita Miluzio, et al.
Human Molecular Genetics|December 24, 2019
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutationFabiana Longo, Sara Benedetti, Alberto A Zambon, et al.
Molecular Autism|June 1, 2023
SETD5 haploinsufficiency affects mitochondrial compartment in neural cellsMattia Zaghi, Fabiana Longo, Luca Massimino, et al.
Human Molecular Genetics|May 14, 2025
Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesisAnastasia Gromova, Byeonggu Cha, Nhat Nguyen, et al.
Frontiers in Molecular Neuroscience|February 3, 2016
Myosin IXa Binds AMPAR and Regulates Synaptic Structure, LTP, and Cognitive FunctionAlessandra Folci, Luca Murru, Elena Vezzoli, et al.
Science Translational Medicine|November 6, 2024
Dysregulation of zebrin-II cell subtypes in the cerebellum is a shared feature across polyglutamine ataxia mouse models and patientsLuke C Bartelt, Pawel M Switonski, Grażyna Adamek, et al.
Human Molecular Genetics|May 24, 2017
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsinEmma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, et al.
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